From the Guidelines
The most likely diagnosis for a young woman presenting with malabsorption and deafness is Refsum disease, a rare genetic disorder caused by mutations in the PHYH or PEX7 genes. This condition leads to defective alpha-oxidation of phytanic acid, resulting in its accumulation in tissues and organs throughout the body 1. The connection between malabsorption and deafness occurs because Refsum disease affects both the gastrointestinal system (causing malabsorption) and the auditory pathway (leading to sensorineural hearing loss) 1.
Key Features of Refsum Disease
- Malabsorption due to gastrointestinal system involvement
- Sensorineural hearing loss due to auditory pathway involvement
- Other symptoms may include retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and ichthyosis
- Treatment involves a strict diet low in phytanic acid and plasmapheresis in severe cases
Importance of Early Diagnosis
Early diagnosis and dietary management are crucial to prevent progression of neurological damage, as the condition can lead to significant disability if left untreated 1. The American College of Medical Genetics and Genomics (ACMG) recommends a comprehensive tiered testing approach for the diagnosis of hearing loss, including genetic testing for gene mutations such as GJB2 (connexin-26) 1.
Management and Treatment
Treatment of Refsum disease involves a strict diet low in phytanic acid, avoiding dairy products, ruminant fats, and certain fish, which can help manage symptoms and slow disease progression 1. Plasmapheresis may be used in severe cases to rapidly reduce phytanic acid levels. A multidisciplinary approach, including genetic counseling, dietary management, and regular monitoring, is essential for the management of Refsum disease.
From the Research
Diagnosis of Malabsorption and Deafness in a Young Woman
The diagnosis for a young woman with malabsorption and deafness can be complex and may involve several potential syndromes.
- Malabsorption can be caused by various factors, including gastrointestinal diseases, pancreatic insufficiency, and disorders affecting the small intestine 2.
- Deafness, on the other hand, can be associated with several genetic syndromes, including Pendred syndrome, which is characterized by sensorineural hearing loss and thyroid abnormalities 3, 4, 5.
- Pendred syndrome is an autosomal recessive disorder that can cause goiter, sensorineural hearing impairment, and inner ear malformations, such as an enlarged vestibular aqueduct 4, 5.
- Another syndrome that may be considered is MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes), which can cause a range of symptoms, including hearing loss, seizures, and gastrointestinal disorders 6.
- In the case of a young woman with malabsorption and deafness, a comprehensive diagnostic evaluation would be necessary to determine the underlying cause of her symptoms, including laboratory tests, imaging studies, and genetic analysis 3, 4, 5, 2, 6.
Key Considerations
- A detailed medical history and physical examination are essential in evaluating a patient with malabsorption and deafness.
- Laboratory tests, such as thyroid function tests and audiometric evaluations, can help identify potential underlying causes.
- Imaging studies, including CT and MRI scans, may be necessary to evaluate inner ear structures and detect any malformations.
- Genetic testing can help diagnose genetic syndromes, such as Pendred syndrome and MELAS.